Canonical Allele Identifier: CA380297174

Gene: DDB2

Linked Data

• dbSNP Id: rs1305901484
• gnomAD v2: 11-47256939-C-G
• gnomAD v3: 11-47235388-C-G
• gnomAD v4: 11-47235388-C-G
• MyVariant Identifiers: chr11:g.47256939C>G (hg19) ; chr11:g.47235388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235388C>G , CM000673.2:g.47235388C>G	GRCh38
NC_000011.9:g.47256939C>G , CM000673.1:g.47256939C>G	GRCh37
NC_000011.8:g.47213515C>G	NCBI36
NG_009365.1:g.25447C>G , LRG_467:g.25447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.999C>G MANE Select	ENSP00000256996.4:p.His333Gln
ENST00000256996.8:c.999C>G	ENSP00000256996.3:p.His333Gln
ENST00000378600.7:c.457-2449C>G	ENSP00000367863.3:n.457-2449C>G
ENST00000378601.7:c.*86C>G	ENSP00000367864.3:n.*86C>G
ENST00000378603.7:c.807C>G	ENSP00000367866.3:p.His269Gln
ENST00000612309.4:n.2448C>G
ENST00000614394.1:n.389C>G
ENST00000616278.4:c.675C>G	ENSP00000478411.1:n.675C>G
ENST00000617022.4:n.1554-2449C>G
ENST00000617847.4:c.928C>G
ENST00000620515.1:n.165C>G
NM_000107.2:c.999C>G , LRG_467t1:c.999C>G	NP_000098.1:p.His333Gln
NM_001300734.1:c.457-2449C>G	NP_001287663.1:n.457-2449C>G
XR_242780.3:n.989C>G
XR_242780.4:n.989C>G
NM_000107.3:c.999C>G MANE Select	NP_000098.1:p.His333Gln
NM_001300734.2:c.457-2449C>G	NP_001287663.1:n.457-2449C>G
NM_001399874.1:c.999C>G	NP_001386803.1:p.His333Gln
NM_001399875.1:c.999C>G	NP_001386804.1:p.His333Gln
NM_001399876.1:c.457-2449C>G	NP_001386805.1:n.457-2449C>G
NM_001399878.1:c.807C>G	NP_001386807.1:p.His269Gln
NR_174610.1:n.1250C>G
NR_174611.1:n.1228C>G